Publicaciones en colaboración con investigadores/as de Instituto de Investigación Sanitaria del Hospital Universitario La Paz (3)

2024

  1. Identification of copy-number variants in patients with overgrowth disorders

    Clinical Genetics, Vol. 106, Núm. 5, pp. 614-624

2017

  1. Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

    Molecular Genetics and Genomic Medicine, Vol. 5, Núm. 1, pp. 28-39

2013

  1. Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication

    American Journal of Medical Genetics, Part A, Vol. 161, Núm. 8, pp. 2030-2035